Variant report

Variant	nsv1034545
Chromosome Location	chr8:51027285-51039772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:
2	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:

Extended variants
information (count: 470 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184872229	chr8:51027285-51027286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534668318	chr8:51027290-51027291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546991493	chr8:51027298-51027299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552831672	chr8:51027368-51027369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369856709	chr8:51027380-51027381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556414240	chr8:51027396-51027397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544831250	chr8:51027425-51027426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577300334	chr8:51027431-51027432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372433768	chr8:51027432-51027433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556759890	chr8:51027437-51027438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575159347	chr8:51027451-51027452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542520363	chr8:51027452-51027453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188946361	chr8:51027459-51027460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529315359	chr8:51027494-51027495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541507264	chr8:51027500-51027501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559627296	chr8:51027550-51027551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112671827	chr8:51027566-51027567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377323360	chr8:51027579-51027580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551978717	chr8:51027615-51027616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570278693	chr8:51027637-51027638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531190865	chr8:51027664-51027665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10096911	chr8:51027789-51027790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181552900	chr8:51027799-51027800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143070424	chr8:51027806-51027807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72639891	chr8:51027819-51027820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186263789	chr8:51027848-51027849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189419344	chr8:51027849-51027850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555325137	chr8:51027851-51027852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146144560	chr8:51027876-51027877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182154732	chr8:51027878-51027879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536136001	chr8:51027934-51027935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185891708	chr8:51027938-51027939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139111219	chr8:51027969-51027970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112965379	chr8:51028050-51028051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527396270	chr8:51028052-51028053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572302241	chr8:51028076-51028077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540712130	chr8:51028082-51028083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545527913	chr8:51028088-51028089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs203620	chr8:51028100-51028101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532914490	chr8:51028115-51028116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11386539	chr8:51028127-51028128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60207517	chr8:51028128-51028129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372400843	chr8:51028136-51028137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs68065965	chr8:51028137-51028138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557473510	chr8:51028145-51028146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397747843	chr8:51028147-51028148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549635965	chr8:51028162-51028163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561450122	chr8:51028176-51028177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143862380	chr8:51028248-51028249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190860916	chr8:51028279-51028280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51018400-51039600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51027800-51028600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:51028200-51028600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:51028600-51030600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr8:51029400-51030200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:51030200-51031000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:51031000-51031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:51031000-51031600	Enhancers	Osteobl	bone
9	chr8:51031400-51034800	Weak transcription	Brain Germinal Matrix	brain
10	chr8:51031600-51038800	Weak transcription	Osteobl	bone
11	chr8:51032200-51046600	Weak transcription	Fetal Brain Male	brain
12	chr8:51034600-51035200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:51034600-51035200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:51034600-51038200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:51034800-51035200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:51034800-51037800	Enhancers	Brain Germinal Matrix	brain
17	chr8:51035000-51035600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:51037400-51039000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:51037800-51046800	Weak transcription	Brain Germinal Matrix	brain
20	chr8:51038000-51047600	Weak transcription	Right Atrium	heart
21	chr8:51038200-51038600	Enhancers	Spleen	Spleen
22	chr8:51038200-51038800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:51038200-51038800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:51038200-51040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:51038400-51038600	Enhancers	Fetal Intestine Large	intestine
26	chr8:51038400-51039000	Enhancers	NH-A	brain
27	chr8:51038600-51039400	Weak transcription	Fetal Intestine Large	intestine
28	chr8:51038800-51040000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:51038800-51040400	Enhancers	Osteobl	bone
30	chr8:51039000-51039400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:51039000-51039800	Weak transcription	NH-A	brain
32	chr8:51039200-51040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:51039400-51039800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr8:51039400-51040200	Enhancers	Fetal Intestine Large	intestine
35	chr8:51039400-51040600	Enhancers	Hela-S3	cervix
36	chr8:51039400-51040800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:51039600-51040200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:51039600-51040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:51039600-51040600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:51039600-51040600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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